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rs80359437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80359437(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338626
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359437
ebirs80359437
HLIrs80359437
Exacrs80359437
Varsomers80359437
Maprs80359437
PheGenIrs80359437
hapmaprs80359437
1000 genomesrs80359437
hgdprs80359437
ensemblrs80359437
gopubmedrs80359437
geneviewrs80359437
scholarrs80359437
googlers80359437
pharmgkbrs80359437
gwascentralrs80359437
openSNPrs80359437
23andMers80359437
23andMe allrs80359437
SNP Nexus

SNPshotrs80359437
SNPdbers80359437
MSV3drs80359437
GWAS Ctlgrs80359437
Max Magnitude6
rs80359437, also known as 4499delC, c.4271_4271delC and p.Ser1424Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359437(;)
Alt rs80359437(;)
Reference rs80359437(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912763delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044385.2, RCV000113288.1,